I have a niece, age 40, who has been ill for a few years now and could not get a diagnosis for her condition, until now. She is dying, literally starving to death. She recently (within the last two weeks) got a diagnosis of Achalasia. My limited understanding is that it is a rare, genetic autoimmune disease that is incurable. Her diagnosis is Achalasia Stage III. My question is about recent research and/or treatments that the various medical teams she has seen may not be aware of. None of them have been willing to even try to help her. She tried to get into Mayo, but her insurance is not accepted there. Any advice anyone can provide would be appreciated. I'm hoping for a miracle.
Extra information:
1. Everyone in our immediate family has serious auto-immune issues. I am a Type 1 diabetic, insulin-dependent for 53 years. Each of my two sisters has rheumatoid arthritis. Our father died from complications of rheumatoid arthritis after 30 years of a painful and miserable life.
2. We have a huge family. I have ten grandchildren and one of my arthritic sisters has twice that many. Out of those next-generation children and grandchildren, someone is likely to inherit the genes. Two daughters of one sister are already starting to show signs of mysterious, unexplainable conditions.
3. These families all live in rural Missouri and have exhausted nearby resources, including those in St. Louis. They are either too busy to help her or can't help her or don't want to be involved.
4. Funds and insurance have been exhausted, at least until the new year starts. I fear my niece will not live that long without an intervention of some kind.
Thank you for any advice or hope you can offer.
I am saddened to hear of your relative's condition.
May I kindly refer you to this journal article that has a fairly comprehensive summary of achalasia.
The diagnostic gold standards, differential diagnoses, classification, dietary, surgical and non -surgical options are reviewed.
Your relative should discuss the relevant contents this article with her medical practitioner and specialists.
Reference- Article An Overview of Achalasia and Its Subtypes
Gastroenterol Hepatol (N Y). 2017 Jul; 13(7): 411–421.
PMCID: PMC5572971
PMID: 28867969
An Overview of Achalasia and Its Subtypes
Dhyanesh A. Patel, MD, Brian M. Lappas, MD, and Michael F. Vaezi, MD, PhD
Best wishes, and hope this helps to progress management by your local physicians.
Thank you, Trevor. I have read the article, but since I am not a medical professional, didn't understand much of it. What I did understand is that as a Phase III patient, not much can be done to help her. I kept a copy of the report and will give it to her if/when the time is right. For now, she is fighting to stay alive until she can get to the Mayo Clinic in January. I'm afraid the article might rob her of that fight. It doesn't offer much hope. Thank you for your kindness in providing me with the article. Please keep Angie in your prayers.